Autoimmune manifestations in heterozygote type i complement 2 deficiency: A child eventually diagnosed with systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is an autoimmune disorder resulting in a broad spectrum of manifestations in several organs, mainly skin and kidney. SLE occurs with interaction of genetic and environmental factors. The most remarkable genetic predisposition to SLE is deficiency of early components of the classical complement pathway. A five-year-old, previously healthy female patient was admitted to our hospital with headache, fever, focal partial seizure, diagnosed and treated as encephalitis. She was re-admitted to our hospital at six years of age with fever, fatigue, alopecia and oral aphthous ulcers and necrotizing vasculitis on extremities. Significant hypocomplementemia, anemia, proteinuria and positive autoantibodies and coombs test led to the diagnosis of SLE. Due to early disease onset and distinct autoimmune manifestations, we diagnosed our patient with type I complement 2 (C2) deficiency with a frameshift mutation in C2 gene and a serum C2 level of <0.2 mg/dL. To our knowledge, this is the first case of genetically confirmed and successfully treated hereditary C2 deficient SLE patient diagnosed with necrotizing vasculitis. We wish to highlight that distinctive autoimmune manifestations should guide physicians to research on monogenic lupus, particularly C2 deficiency, even in the absence of coexisting recurrent pyogenic infections. © 2019 Turkish League Against Rheumatism. All rights reserved

Disease severity and genotype affect physical growth in children with familial mediterranean fever

Objectives: This study aims to analyze the growth parameters in children with familial Mediterranean fever (FMF) according to disease characteristics including genotype and disease severity by a recently validated tool in relatively more patients. Patients and methods: This retrospective study included 126 patients with FMF (70 males, 56 females; mean age 7.3±3.6 years; range, 4.1 to 18 years). MEditerranean FeVer (MEFV) gene analysis was performed with a molecular diagnostics tool by using a next-generation sequencing platform. Disease severity was determined for the first visit by the validated tool in children, international severity scoring system for FMF. Growth parameters including weight and height were investigated after standard deviation (SD) scores were calculated by anthropometric references in Turkish children. Results: Median follow-up duration was 74.7 months (range, 7.5 to 169 months). Ninety-three patients (73.8%) had at least one M694V mutation in MEFV gene. Six patients (4.8%) had severe disease, 58 (46%) had intermediate severity, and 62 (49.2%) had mild disease. Mean height SD score was significantly lower at last visit than before colchicine treatment. Initial and last height and weight SD scores were lower in patients with at least one M694V mutation than those without. However, the difference was statistically significant for only initial height SD score. We also found statistically significant lower initial height, final height, and weight SD scores in patients with intermediate severity-severe disease activity than mild disease. Conclusion: We advise physicians to score disease severity prospectively and pay attention to patients with intermediate severity-severe disease to avoid growth disturbances. © 2019 Turkish League Against Rheumatism